FEATURES

FAMILY

DESCRIPTION

Also known as TGS1_HUMAN, TGS1, HCA137, NCOA6IP, PIMT. Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2, 2, 7-trimethylguanosine (m(2, 2, 7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN.

EXTERNAL LINKS

TGS1

Mutations

Mutation(s) distribution

Mutations table